%0 Journal Article %T Transient expression assay of Agamma-588 (A/G) mutations in the K562 cell line. %+ Biotechnology Research Center %+ Department of Clinical Genetics (NIGEB) %+ Department of Medical Genetics %+ BCG department %A Hamid, Mohammad %A Mahjoubi, Frouzandeh %A Akbari, Mohammad Taghi %A Khanahmad, Hossein %A Jamshidi, Fatemeh %A Zeinali, Sirous %A Karimipoor, Morteza %< avec comité de lecture %@ 1028-852X %J Iranian Biomedical Journal %I Pasteur Institute of Iran %V 15 %N 1-2 %P 15-21 %8 2011 %D 2011 %M 21725495 %K Β-Thalassemia %K globin %K k652 cells %Z Life Sciences [q-bio]/Genetics/Human geneticsJournal articles %X BACKGROUND: In the previous study, we have shown that the presence of A allele at position -588 in Agamma-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among beta-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in Agamma-globin gene expression to ameliorate the severity of the disease in thalassemia patients. METHODS: Three constructs containing mu locus control region, Agamma-globin and beta-globin genes were designed and employed in the transient expression assay. The difference among constructs was in the promoter region of Agamma-globin gene (A and G alleles at -588). A construct with T to C base substitution at -175 of Agamma-globin, created by site-directed mutagenesis, was selected as positive control. The K562 cell line was transfected with the above constructs. Subsequently, the expression of Agamma-globin gene was determined by quantitative real-time reverse transcription-PCR. RESULTS: There was not a significant increase in the expression of Agamma-globin gene in the construct containing A allele comparing the one with G allele at -588. CONCLUSIONS: -588 (A>G) mutation does not play a major role in regulation of Agamma-globin gene, suggesting that other factors may be involved. %G English %Z Mohammad Hamid %Z Frouzandeh Mahjoubi %Z Mohammad Taghi Akbari %Z Hossein Khanahmad %Z Fatemeh Jamshidi %Z Sirous Zeinali %Z Morteza Karimipoor %2 https://riip.hal.science/pasteur-00746421/document %2 https://riip.hal.science/pasteur-00746421/file/Transient_Expression_Assay_of_AI_588_Mutations.pdf %L pasteur-00746421 %U https://riip.hal.science/pasteur-00746421 %~ RIIP %~ RIIP_IRAN